期刊
HUMAN MUTATION
卷 30, 期 7, 页码 E761-E770出版社
WILEY
DOI: 10.1002/humu.21032
关键词
FA-L; FANCL; Mutation; Fanconi anemia
资金
- NHLBI NIH HHS [R01 HL081499, R37HL32987, R01 HL084082, R37 HL032987, R01 HL084082-03, HL081499] Funding Source: Medline
Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder characterized by aplastic anemia, cancer susceptibility and cellular sensitivity to DNA crosslinking agents. Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. FANCL possesses a PHD/RING-finger domain and is a putative E3 ubiquitin ligase subunit of the core complex. In this study, we report an FA patient with an unusual presentation belonging to the FA-L complementation group. The patient lacks an obvious FA phenotype except for the presence of a cafe-au-lait spot, mild hypocellularity and a family history of leukemia. The molecular diagnosis and identification of the FA subgroup was achieved by FA complementation assay. We identified bi-allelic novel mutations in the FANCL gene and functionally characterized them. To the best of our knowledge, this is the second reported case belonging to the FA-L complementation group. (C) 2009 Wiley-Liss, Inc.
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